HGVS | Genome Assembly |
---|---|
NC_000015.10:g.44711462G>T , CM000677.2:g.44711462G>T | GRCh38 |
NC_000015.9:g.45003660G>T , CM000677.1:g.45003660G>T | GRCh37 |
NC_000015.8:g.42790952G>T | NCBI36 |
NG_012920.1:g.4976G>T | |
NG_012920.2:g.4986G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695792.1:n.83+22G>T |